-
1
-
-
0028297940
-
Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8
-
Barber JCK, James RS, Patch C, Temple IK (1994): Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8. Am J Med Genet 50:296-299.
-
(1994)
Am J Med Genet
, vol.50
, pp. 296-299
-
-
Barber, J.C.K.1
James, R.S.2
Patch, C.3
Temple, I.K.4
-
2
-
-
0025008535
-
Clinical diagnosis of partial duplication 7q
-
Bartsch O, Kalbe U, Ngo TKN, Lettau R, Schwinger E (1990): Clinical diagnosis of partial duplication 7q. Am J Med Genet 37:254-257.
-
(1990)
Am J Med Genet
, vol.37
, pp. 254-257
-
-
Bartsch, O.1
Kalbe, U.2
Ngo, T.K.N.3
Lettau, R.4
Schwinger, E.5
-
3
-
-
0027202605
-
A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization
-
Batista DAS, Tuck-Muller CM, Martinez JE, Kearns WG, Pearson PL, Stellen G (1993): A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization. Hum Genet 92:117-121.
-
(1993)
Hum Genet
, vol.92
, pp. 117-121
-
-
Batista, D.A.S.1
Tuck-Muller, C.M.2
Martinez, J.E.3
Kearns, W.G.4
Pearson, P.L.5
Stellen, G.6
-
4
-
-
0003849372
-
Multiple congenital anomalies and ambiguous genitalia in a child with trisomy 7q
-
Begleiter ML, Zalles C, Schwartz ID, Harris DJ, Pasztor LM (1995): Multiple congenital anomalies and ambiguous genitalia in a child with trisomy 7q. Am J Hum Genet 57:A107.
-
(1995)
Am J Hum Genet
, vol.57
-
-
Begleiter, M.L.1
Zalles, C.2
Schwartz, I.D.3
Harris, D.J.4
Pasztor, L.M.5
-
5
-
-
0003893137
-
-
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
-
Blackburn EH, Greider CW (1995): "Telomeres." Cold Spring Harbor: Cold Spring Harbor Laboratory Press, pp 271-272.
-
(1995)
Telomeres
, pp. 271-272
-
-
Blackburn, E.H.1
Greider, C.W.2
-
8
-
-
0023257421
-
Inverted tandem duplication generates a duplication deficiency of chromosome 8p
-
Dill FJ, Schertzer M, Sandercock J, Tischler B, Wood S (1987): Inverted tandem duplication generates a duplication deficiency of chromosome 8p. Clin Genet 32:109-113.
-
(1987)
Clin Genet
, vol.32
, pp. 109-113
-
-
Dill, F.J.1
Schertzer, M.2
Sandercock, J.3
Tischler, B.4
Wood, S.5
-
9
-
-
0023707601
-
The phenotype of partial dup(7q) reconsidered: A report of five new cases
-
Forabosco A, Baroncini A, Dalpra L, Chessa L, Giannotti A, Maccagnani F, Dallapiccola B (1988): The phenotype of partial dup(7q) reconsidered: A report of five new cases. Clin Genet 34: 48-59.
-
(1988)
Clin Genet
, vol.34
, pp. 48-59
-
-
Forabosco, A.1
Baroncini, A.2
Dalpra, L.3
Chessa, L.4
Giannotti, A.5
Maccagnani, F.6
Dallapiccola, B.7
-
10
-
-
0028247558
-
Report of the first international workshop on human chromosome 7 mapping 1993
-
Grzeschik K-H, Tsui L-C, Green ED (1994): Report of the first international workshop on human chromosome 7 mapping 1993. Cytogenet Cell Genet 65:52-62.
-
(1994)
Cytogenet Cell Genet
, vol.65
, pp. 52-62
-
-
Grzeschik, K.-H.1
Tsui, L.-C.2
Green, E.D.3
-
11
-
-
0029087828
-
Clinical cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization
-
Guo W-J, Callif-Daley F, Zapata MC, Miller ME (1995): Clinical cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization. Am J Med Genet 58:230-236.
-
(1995)
Am J Med Genet
, vol.58
, pp. 230-236
-
-
Guo, W.-J.1
Callif-Daley, F.2
Zapata, M.C.3
Miller, M.E.4
-
12
-
-
0026451619
-
De novo inverted duplication of chromosome 7q
-
Haslam JS, Norman AM (1992): De novo inverted duplication of chromosome 7q. J Med Genet 29:837-838.
-
(1992)
J Med Genet
, vol.29
, pp. 837-838
-
-
Haslam, J.S.1
Norman, A.M.2
-
13
-
-
0025821020
-
Familial holoprosencephaly associated with a translocation break-point at chromosomal position 7q36
-
Hatziioannou AG, Krauss CM, Lewis MB, Halazonetis TD (1991): Familial holoprosencephaly associated with a translocation break-point at chromosomal position 7q36. Am J Med Genet 40:201-205.
-
(1991)
Am J Med Genet
, vol.40
, pp. 201-205
-
-
Hatziioannou, A.G.1
Krauss, C.M.2
Lewis, M.B.3
Halazonetis, T.D.4
-
14
-
-
0027364452
-
VNTR and microsatellite polymorphisms within the subtelomeric region of 7q
-
Hing AV, Helms C, Donis-Keller H (1993): VNTR and microsatellite polymorphisms within the subtelomeric region of 7q. Am J Hum Genet 53:509-517.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 509-517
-
-
Hing, A.V.1
Helms, C.2
Donis-Keller, H.3
-
15
-
-
0002413867
-
De novo duplication of chromosome 7q
-
Kardon NB, Pollack L, Davis JG, Broekman A, Krauss M (1980): De novo duplication of chromosome 7q. Am J Hum Genet 32:75A.
-
(1980)
Am J Hum Genet
, vol.32
-
-
Kardon, N.B.1
Pollack, L.2
Davis, J.G.3
Broekman, A.4
Krauss, M.5
-
16
-
-
0027494343
-
De novo truncation of chromosome 16p and healing with (TTAGGG)n in the α-thalassemia/mental retardation syndrome (ATR-16)
-
Lamb J, Harris PC, Wikie AOM, Wood WG, Dauwerse JG, Higgs DR (1993): De novo truncation of chromosome 16p and healing with (TTAGGG)n in the α-thalassemia/mental retardation syndrome (ATR-16). Am J Hum Genet 52:668-676.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 668-676
-
-
Lamb, J.1
Harris, P.C.2
Wikie, A.O.M.3
Wood, W.G.4
Dauwerse, J.G.5
Higgs, D.R.6
-
17
-
-
0025064394
-
Chromosome 7 abnormalities in parents of children with holoprosencephaly and hydronephrosis
-
Lurie IW, Ilyina HG, Podleschuk LV, Gorelik LB, Zaletajev DV (1990): Chromosome 7 abnormalities in parents of children with holoprosencephaly and hydronephrosis. Am J Med Genet 35:286-288.
-
(1990)
Am J Med Genet
, vol.35
, pp. 286-288
-
-
Lurie, I.W.1
Ilyina, H.G.2
Podleschuk, L.V.3
Gorelik, L.B.4
Zaletajev, D.V.5
-
18
-
-
0027428375
-
D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p)
-
Minelli A, Floridia G, Rossi E, Clementi M, Tenconi R, Camurri L, Bernardi F, Hoeller H, Re CP, Maraschio P, Wood S, Zuffardi O, Danesino C (1993): D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p). Hum Genet 92:391-396.
-
(1993)
Hum Genet
, vol.92
, pp. 391-396
-
-
Minelli, A.1
Floridia, G.2
Rossi, E.3
Clementi, M.4
Tenconi, R.5
Camurri, L.6
Bernardi, F.7
Hoeller, H.8
Re, C.P.9
Maraschio, P.10
Wood, S.11
Zuffardi, O.12
Danesino, C.13
-
19
-
-
0028008985
-
U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8
-
Mitchell JJ, Vekemans M, Luscombe S, Hayden M, Weber B, Richter A, Sparkes R, Kojis T, Watters G, Der Kaloustian VM (1994): U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8. Am J Med Genet 49:384-387.
-
(1994)
Am J Med Genet
, vol.49
, pp. 384-387
-
-
Mitchell, J.J.1
Vekemans, M.2
Luscombe, S.3
Hayden, M.4
Weber, B.5
Richter, A.6
Sparkes, R.7
Kojis, T.8
Watters, G.9
Der Kaloustian, V.M.10
-
20
-
-
0025808098
-
Recognition of a chromosome truncation site associated with α-thalassemia by human telomerase
-
Morin GB (1991): Recognition of a chromosome truncation site associated with α-thalassemia by human telomerase. Nature 353: 454-456.
-
(1991)
Nature
, vol.353
, pp. 454-456
-
-
Morin, G.B.1
-
21
-
-
0026774858
-
A comprehensive genetic linkage map of the human genome
-
NIH/CEPH Collaborative Mapping Group (1992): A comprehensive genetic linkage map of the human genome. Science 258:67-86.
-
(1992)
Science
, vol.258
, pp. 67-86
-
-
-
22
-
-
0022446922
-
Cytogenetic analysis using quantitative, high sensitive, fluorescence in situ hybridization
-
Pinkel D, Straume T, Gray J (1986): Cytogenetic analysis using quantitative, high sensitive, fluorescence in situ hybridization. Proc Natl Acad Sci USA 83:2934-2938.
-
(1986)
Proc Natl Acad Sci USA
, vol.83
, pp. 2934-2938
-
-
Pinkel, D.1
Straume, T.2
Gray, J.3
-
23
-
-
0343319476
-
Fluorescence in situ hybridization with human chromosome-specific libraries: Detection of trisomy 21 and translocations of chromosome 4
-
Pinkel D, Landegent J, Collins C, Fuscoe J, Segraves R, Lucas J, Gray J (1988): Fluorescence in situ hybridization with human chromosome-specific libraries: Detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci USA 85:9138-9142.
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 9138-9142
-
-
Pinkel, D.1
Landegent, J.2
Collins, C.3
Fuscoe, J.4
Segraves, R.5
Lucas, J.6
Gray, J.7
-
24
-
-
0029642049
-
Duplication/deletion of chromosome 8p
-
Priest JH (1995): Duplication/deletion of chromosome 8p. Am J Med Genet 58:237.
-
(1995)
Am J Med Genet
, vol.58
, pp. 237
-
-
Priest, J.H.1
-
25
-
-
0028899549
-
A rapid method for PCR amplification of DNA directly from cells fixed in candy's fixative
-
Shibo L, Tuck-Muller CM, Yan Q, Wertelecki W, Chen H (1995): A rapid method for PCR amplification of DNA directly from cells fixed in candy's fixative. Am J Med Genet 55:116-119.
-
(1995)
Am J Med Genet
, vol.55
, pp. 116-119
-
-
Shibo, L.1
Tuck-Muller, C.M.2
Yan, Q.3
Wertelecki, W.4
Chen, H.5
-
26
-
-
0027312645
-
Interstitial duplication of 7(q22-q34)
-
Stratton RF, DuPont BR, Mattern VL, Schelonka RL, Moore C (1993): Interstitial duplication of 7(q22-q34). Am J Med Genet 47:380-382.
-
(1993)
Am J Med Genet
, vol.47
, pp. 380-382
-
-
Stratton, R.F.1
DuPont, B.R.2
Mattern, V.L.3
Schelonka, R.L.4
Moore, C.5
-
27
-
-
0024816743
-
Partial trisomy of chromosome 7 due to balanced chromosome translocation in the father
-
Stumpner P (1989): Partial trisomy of chromosome 7 due to balanced chromosome translocation in the father. Geburtshilfe Frauenheilkunde 49:1090-1092.
-
(1989)
Geburtshilfe Frauenheilkunde
, vol.49
, pp. 1090-1092
-
-
Stumpner, P.1
-
28
-
-
0026446099
-
A second-generation linkage map of the human genome
-
Weissenbach J, Gyapay G, Dib C, Vignal A, Morissette J, Millaseau P, Vaysseix G, Lathrop M (1992): A second-generation linkage map of the human genome. Nature 359:794-801.
-
(1992)
Nature
, vol.359
, pp. 794-801
-
-
Weissenbach, J.1
Gyapay, G.2
Dib, C.3
Vignal, A.4
Morissette, J.5
Millaseau, P.6
Vaysseix, G.7
Lathrop, M.8
-
29
-
-
0025007621
-
A truncated human chromosome 16 associated with α-thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n
-
Wilkie AOM, Lamb J, Harris PC, Finney RD, Higgs DR (1990): A truncated human chromosome 16 associated with α-thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n. Nature 346:868-871.
-
(1990)
Nature
, vol.346
, pp. 868-871
-
-
Wilkie, A.O.M.1
Lamb, J.2
Harris, P.C.3
Finney, R.D.4
Higgs, D.R.5
|